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Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.
Orphanet J Rare Dis. 2013 May 22;8:80. doi: 10.1186/1750-1172-8-80.
Orphanet J Rare Dis. 2013.
PMID: 23692823
Free PMC article.
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
Milh M, Lacoste C, Cacciagli P, Abidi A, Sutera-Sardo J, Tzelepis I, Colin E, Badens C, Afenjar A, Coeslier AD, Dailland T, Lesca G, Philip N, Villard L.
Milh M, et al. Among authors: sutera sardo j.
Am J Med Genet A. 2015 Oct;167A(10):2314-8. doi: 10.1002/ajmg.a.37152. Epub 2015 May 10.
Am J Med Genet A. 2015.
PMID: 25959266
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A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.
Abidi A, Devaux JJ, Molinari F, Alcaraz G, Michon FX, Sutera-Sardo J, Becq H, Lacoste C, Altuzarra C, Afenjar A, Mignot C, Doummar D, Isidor B, Guyen SN, Colin E, De La Vaissière S, Haye D, Trauffler A, Badens C, Prieur F, Lesca G, Villard L, Milh M, Aniksztejn L.
Abidi A, et al. Among authors: sutera sardo j.
Neurobiol Dis. 2015 Aug;80:80-92. doi: 10.1016/j.nbd.2015.04.017. Epub 2015 May 22.
Neurobiol Dis. 2015.
PMID: 26007637
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Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.
Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Lévy N, Girard N, Sarda P, Boespflug-Tanguy O, Villard L.
Cacciagli P, et al. Among authors: sutera sardo j.
Am J Hum Genet. 2013 Sep 5;93(3):579-86. doi: 10.1016/j.ajhg.2013.07.023.
Am J Hum Genet. 2013.
PMID: 24011989
Free PMC article.
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